Rare Disease Library

Isolated delta-storage pool disease

Isolated delta-SPD · Isolated dense-SPD

Acute necrotizing encephalopathy of childhood

ANEC · Isolated ANE

Hereditary steroid-resistant nephrotic syndrome

Familial idiopathic steroid-resistant nephrotic syndrome · Hereditary SRNS

Isolated adrenal medullary hyperplasia

Isolated AMH

Isolated childhood apraxia of speech

Isolated developmental verbal dyspraxia · Pure childhood apraxia of speech

Isolated congenital hepatic fibrosis

Isolated CHF

Isolated dystonia

Pure dystonia

Isolated idiopathic anterior uveitis

Isolated IAU

Isolated permanent neonatal diabetes mellitus

Monogenic diabetes of infancy · Isolated PNDM

Isolated persistent urogenital sinus

Isolated PUGS

Isolated primary pigmented nodular adrenocortical disease

i-PPNAD · Isolated PPNAD

Isolated sedoheptulokinase deficiency

Isolated SHPK deficiency

Isolated sternocostoclavicular hyperostosis

Isolated SCCH

Spina bifida and other spinal dysraphisms

Isolated spina bifida · Isolated spinal dysraphism